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Data summary

Publications : 1001
Phenotypes : 178
Genes : 207
Mutations : 4631
SNVs : 3422
InDels : 1209
Last Update : 22/02/2019

Detailed information for RP1

Basic information

Official symbol	RP1
Official full name	retinitis pigmentosa 1 (autosomal dominant)
Location	8q12.1
Gene type	protein-coding
Synonyms	DCDC4A\|ORP1
Quick links	Entrez ID:6101; HGNC:10263; MIM:603937; Ensembl:ENSG00000104237; HPRD:04896; Vega:OTTHUMG00000164379

GO related

GO term accession	GO term name	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-Value
GO:0050953	sensory perception of light stimulus	205	100	2.55	39.21	8.72e-146	1.02e-142
GO:0007601	visual perception	204	99	2.54	39.01	7.39e-144	4.34e-141
GO:0007600	sensory perception	495	103	6.16	16.73	4.54e-105	1.78e-102
GO:0050877	neurological system process	1237	106	15.39	6.89	1.82e-66	5.34e-64
GO:0003008	system process	1695	108	21.09	5.12	1.12e-54	2.63e-52
GO:0045494	photoreceptor cell maintenance	25	22	0.31	70.74	7.36e-40	1.44e-37
GO:0060041	retina development in camera-type eye	105	31	1.31	23.73	1.13e-34	1.90e-32
GO:0009583	detection of light stimulus	47	24	0.58	41.05	4.99e-34	7.32e-32
GO:0043954	cellular component maintenance	38	22	0.47	46.54	6.20e-33	8.09e-31
GO:0007423	sensory organ development	436	48	5.42	8.85	3.27e-32	3.84e-30
GO:0009582	detection of abiotic stimulus	83	27	1.03	26.15	1.40e-31	1.49e-29
GO:0001654	eye development	276	39	3.43	11.36	3.01e-30	2.94e-28
GO:0009581	detection of external stimulus	100	27	1.24	21.70	4.42e-29	3.99e-27
GO:0044707	single-multicellular organism process	5612	143	69.81	2.05	9.21e-29	7.72e-27
GO:0032501	multicellular organismal process	5644	143	70.21	2.04	1.83e-28	1.43e-26
GO:0046530	photoreceptor cell differentiation	41	20	0.51	39.21	5.82e-28	4.27e-26
GO:0042461	photoreceptor cell development	30	18	0.37	48.23	1.64e-27	1.13e-25
GO:0009584	detection of visible light	22	16	0.27	58.46	1.18e-26	7.70e-25
GO:0043010	camera-type eye development	237	33	2.95	11.19	2.13e-25	1.25e-23
GO:0007602	phototransduction	37	18	0.46	39.11	3.11e-25	1.74e-23
GO:0009416	response to light stimulus	203	29	2.53	11.48	1.06e-22	5.41e-21
GO:0001754	eye photoreceptor cell differentiation	34	16	0.42	37.83	3.06e-22	1.50e-20
GO:0048592	eye morphogenesis	126	24	1.57	15.31	5.38e-22	2.53e-20
GO:0042462	eye photoreceptor cell development	25	14	0.31	45.02	5.07e-21	2.29e-19
GO:0051606	detection of stimulus	202	27	2.51	10.74	2.10e-20	9.13e-19
GO:0044699	single-organism process	7682	152	95.57	1.59	9.26e-19	3.88e-17
GO:0009314	response to radiation	319	29	3.97	7.31	3.46e-17	1.35e-15
GO:0048646	anatomical structure formation involved in morphogenesis	1594	62	19.83	3.13	4.32e-17	1.64e-15
GO:0030031	cell projection assembly	204	24	2.54	9.46	6.34e-17	2.33e-15
GO:0009653	anatomical structure morphogenesis	2055	70	25.56	2.74	1.99e-16	7.08e-15
GO:0030030	cell projection organization	934	46	11.62	3.96	2.85e-16	9.84e-15
GO:0060042	retina morphogenesis in camera-type eye	37	13	0.46	28.24	3.05e-16	1.02e-14
GO:0007603	phototransduction, visible light	11	9	0.14	65.77	3.15e-16	1.03e-14
GO:0048856	anatomical structure development	4030	102	50.13	2.03	4.19e-16	1.33e-14
GO:0048593	camera-type eye morphogenesis	90	15	1.12	13.40	3.00e-13	9.03e-12
GO:0032502	developmental process	4572	104	56.88	1.83	3.53e-13	1.04e-11
GO:0005488	binding	11955	150	132.97	1.13	0.0005	0.0090
GO:0005515	protein binding	7337	102	81.61	1.25	0.0011	0.0149
GO:0005929	cilium	239	55	2.61	21.10	2.59e-58	5.08e-56
GO:0031513	nonmotile primary cilium	80	32	0.87	36.67	1.40e-42	1.37e-40
GO:0072372	primary cilium	96	33	1.05	31.52	2.93e-41	1.91e-39
GO:0044441	cilium part	110	29	1.20	24.17	1.90e-32	9.31e-31
GO:0042995	cell projection	1230	67	13.42	4.99	5.15e-30	2.02e-28
GO:0001750	photoreceptor outer segment	37	19	0.40	47.08	3.03e-28	9.90e-27
GO:0044463	cell projection part	639	42	6.97	6.03	2.11e-21	5.17e-20
GO:0032391	photoreceptor connecting cilium	23	12	0.25	47.83	2.41e-18	4.72e-17
GO:0001917	photoreceptor inner segment	20	10	0.22	45.84	3.14e-15	5.13e-14
GO:0015630	microtubule cytoskeleton	863	37	9.41	3.93	5.76e-13	8.68e-12
GO:0044430	cytoskeletal part	1287	39	14.04	2.78	3.99e-09	3.91e-08
GO:0005930	axoneme	70	10	0.76	13.10	4.21e-09	3.93e-08
GO:0035085	cilium axoneme	52	9	0.57	15.87	4.42e-09	3.94e-08
GO:0005856	cytoskeleton	1790	47	19.52	2.41	7.23e-09	6.16e-08

Pathway related

Term	Surce	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value

PPI related

ID	Number of reference genes	Number of genes	Expected number	Ratio of enrichment	P-value	Adjusted P-value

OMIM related

chromosome	begin	end	disorder MIM number	disorder	phene mapping key	gene/locus MIM number	cytogenetic loaction
chr8	55527626	55544394	180100	Retinitis pigmentosa 1	3	603937	8q12.1
chr8	55527626	55544394	145750	"{Hypertriglyceridemia, susceptibility to}"	3	603937	8q12.1

MGI related

chromosome	begin	end	gene ID	gene symbol of mouse	MGI	MP	phenotype description
chr8	55527626	55544394	6101	Rp1	MGI:1341105	MP:0003631	nervous system phenotype
chr8	55527626	55544394	6101	Rp1	MGI:1341105	MP:0005385	cardiovascular system phenotype
chr8	55527626	55544394	6101	Rp1	MGI:1341105	MP:0005391	vision/eye phenotype

Mutation spectrum

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Gene-disease network

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